ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825756284
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285813
ClinVar RCV Id:
RCV000335981
RCV000535143
RCV001274443
RCV002480026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Arg499Cys
CA1705795
NM_001130980.2:c.1495C>T